CD4 c.1348C>T ;(p.R450W)

Variant ID: 12-6928466-C-T

NM_000616.4(CD4):c.1348C>T;(p.R450W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: CD4: R450W
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Multi-Omics Analysis to Characterize Cigarette Smoke Induced Molecular Alterations in Esophageal Cells.

Frontiers In Oncology
Khan, Aafaque Ahmad AA; Patel, Krishna K; Patil, Shankargouda S; Babu, Niraj N; Mangalaparthi, Kiran K KK; Solanki, Hitendra Singh HS; Nanjappa, Vishalakshi V; Kumari, Anjali A; Manoharan, Malini M; Karunakaran, Coral C; Murugan, Saktivel S; Nair, Bipin B; Kumar, Rekha V RV; Biswas, Manjusha M; Sidransky, David D; Gupta, Ravi R; Gupta, Rohit R; Khanna-Gupta, Arati A; Kumar, Prashant P; Chatterjee, Aditi A; Gowda, Harsha H
Publication Date: 2020

Variant appearance in text: CD4: 1348C>T
PubMed Link: 33251127
Variant Present in the following documents:
  • Table_3.pdf
View BVdb publication page



2020 CIS Annual Meeting: Immune Deficiency & Dysregulation North American Conference.

Journal Of Clinical Immunology
Publication Date: 2020-04

Variant appearance in text: CD4: 1348C>T; R450W
PubMed Link: 32394034
Variant Present in the following documents:
  • Main text
  • 10875_2020_Article_764.pdf
View BVdb publication page